南充市育龄夫妇地中海贫血基因检测结果分析

目的 了解南充市育龄夫妇地中海贫血(简称地盆)基因类型及分布特点。方法 选取2018年1月至2020年12月于南充市中心医院就诊的疑似地贫的育龄夫妇3 075例,采用Gap-PCR技术和反向斑点杂交法行α、β地贫基因检测。结果 3 075例患者中检测出地贫基因变异647例,阳性检出率达21.04%。其中α-地贫319例,β-地贫315例,αβ复合型地贫13例。319例α-地贫以-^SEA/αα、-α^3.7/αα、-α^4.2/αα基因型为主,分别占α-地贫的51.10%、28.52%、6.90%;315例β-地贫以CD17、CD41-42、IVS-II-654基因型为主,分别占β-地贫的38.10%、32.38%、18.10%。13例αβ复合型地贫以;/αα复合CD41-42为主,占αβ复合型地贫的30.77%。与非地贫基因携带组比较,地贫组红细胞(red blood cell, RBC)明显升高(t=73.421,P<0.01),血红蛋白(hemoglobin, Hb)、平均红细胞体积(mean corpuscular volume, MCV)、平均红细胞血红蛋白量(mean corpuscular hemoglobin, MCH)、平均红细胞血红蛋白浓度(mean corpuscular hemoglobin concentration, MCHC)明显降低(t=-24.68,-97.74,-96.58,-37.14,P<0.01)。结论 南充市地贫基因阳性检出例数较多且基因类型复杂多样,其中α-地贫与β-地贫携带率相似,分布具有区域性特点。此外,地贫基因携带者RBC、Hb、MCV、MCH、MCHC均有别于非地贫基因携带者,这些基因检测结果和红细胞参数可为该地区地贫的诊断和预防提供理论依据。

Analysis of thalassemia gene detection results among couples of childbearing age in Nanchong City

Objective To understand the gene types and distribution characteristics of thalassemia in couples of reproductive age in Nanchong.Methods A total of 3 075 couples of reproductive age with suspected thalassemia who came to Nanchong Central Hospital from January 2018 to December 2020 were enrolled.The α and β-thalassaemia genes were detected by Gap-PCR technology and reverse blot hybridization.Results 647 thalassemia gene mutations were detected in 3 075 patients, and the positive detection rate was 21.04%.Among them, there were 319 cases of α-thalassemia, 315 cases of β-thalassemia and 13 cases of αβ complex thalassemia.The majority of the 319 α-thalassemia samples were-^SEA/-α^3.7/αα、-α^4.2/αα,which accounted for 51.10%,28.52%,6.90% of α-thalassemia, respectively.Among the 315 β-thalassemia samples, CD17,CD41-42,IVS-II-654 were the main genotypes, accounting for 38.10%,32.38%,18.10 % of β-thalassemia, respectively.The 13 cases of αβ complex thalassaemia were dominated by;/αα complex CD41-42,accounting for 30.77% of the αβ complex thalassaemia.Compared with the erythrocyte parameters of the non-thalassaemia gene carrier group, the RBC of the thalassaemia group was significantly increased(t=73.421,P<0.01),while hemoglobin(Hb),mean corpuscular volume(MCV),mean corpuscular hemoglobin(MCH),and mean corpuscular hemoglobin concentration(MCHC) were significantly decreased(t=-24.68,-97.74,-96.58,-37.14,P<0.01).Conclusion The number of positive cases of thalassaemia gene in Nanchong is large and the gene types are complex and diverse.Among them, α-thalassemia and β-thalassemia have similar carrier rates, and the distribution has regional characteristics.In addition, RBC,Hb, MCV,MCH,MCHC of thalassaemia gene carriers are different from non-thalassaemia gene carrier patients.These gene test results and erythrocyte parameters can provide theoretical basis for the diagnosis and prevention of thalassemia in the region.